Ontology highlight
ABSTRACT:
SUBMITTER: Gorman GS
PROVIDER: S-EPMC4613521 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Gorman Grainne S GS Blakely Emma L EL Hornig-Do Hue-Tran HT Tuppen Helen A L HA Greaves Laura C LC He Langping L Baker Angela A Falkous Gavin G Newman Jane J Trenell Michael I MI Lecky Bryan B Petty Richard K RK Turnbull Doug M DM McFarland Robert R Taylor Robert W RW
Clinical science (London, England : 1979) 20150601 12
Complex I (CI) is the largest of the five multi-subunit complexes constituting the human oxidative phosphorylation (OXPHOS) system. Seven of its catalytic core subunits are encoded by mitochondrial DNA (ND (NADH dehydrogenase)1-6, ND4L (NADH dehydrogenase subunit 4L)), with mutations in all seven having been reported in association with isolated CI deficiency. We investigated two unrelated adult patients presenting with marked exercise intolerance, persistent lactic acidaemia and severe muscle-r ...[more]